HGVS | Genome Assembly |
---|---|
NC_000012.12:g.63146979G>T , CM000674.2:g.63146979G>T | GRCh38 |
NC_000012.11:g.63540759G>T , CM000674.1:g.63540759G>T | GRCh37 |
NC_000012.10:g.61827026G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299178.4:c.*380C>A MANE Select | ENSP00000299178.3:n.*380C>A | |
ENST00000299178.3:c.*380C>A | ENSP00000299178.2:n.*380C>A | |
ENST00000550940.1:c.538+442C>A | ENSP00000449822.1:n.538+442C>A | |
NM_000706.4:c.*380C>A | NP_000697.1:n.*380C>A | |
XM_005269002.3:c.*380C>A | XP_005269059.1:n.*380C>A | |
NM_000706.5:c.*380C>A MANE Select | NP_000697.1:n.*380C>A |